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Test Code CASRG CASR Full Gene Sequencing with Deletion/Duplication, Varies


Ordering Guidance


Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.

 

Testing for the CASR gene as part of a customized panel is available. For more information, see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Hereditary Renal Genetic Testing Patient Information (T918)

3. If not ordering electronically, complete, print, and send a Renal Diagnostics Test Request (T830) with the specimen.

Useful For

Providing a genetic evaluation of individuals with a personal or family history of familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, or autosomal dominant hypoparathyroidism (autosomal dominant hypocalcemia)

 

Establishing a diagnosis of familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, or autosomal dominant hypoparathyroidism (autosomal dominant hypocalcemia)

 

As a part of the workup for patients with primary hyperparathyroidism, idiopathic hypoparathyroidism, and Bartter syndrome

Method Name

Sequence Capture and Next-Generation Sequencing (NGS)

Reporting Name

CASR Full Gene Analysis

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(3) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Vahe C, Benomar K, Espiard S, et al: Diseases associated with calcium-sensing receptor. Orphanet J Rare Dis. 2017 Jan 25;12(1):19. doi: 10.1186/s13023-017-0570-z

2. Roszko KL, Bi RD, Mannstadt M: Autosomal dominant hypocalcemia (hypoparathyroidism) Types 1 and 2. Front Physiol. 2016 Oct;7:458. doi: 10.3389/fphys.2016.00458

3. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424

Day(s) Performed

Varies

Report Available

28 to 42 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81405

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CASRG CASR Full Gene Analysis 82534-9

 

Result ID Test Result Name Result LOINC Value
618059 Test Description 62364-5
618060 Specimen 31208-2
618061 Source 31208-2
618062 Result Summary 50397-9
618063 Result 82939-0
618064 Interpretation 69047-9
618065 Additional Results 82939-0
618066 Resources 99622-3
618067 Additional Information 48767-8
618068 Method 85069-3
618069 Genes Analyzed 48018-6
618070 Disclaimer 62364-5
618071 Released By 18771-6